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Mbnl1
Gene Detail
 Symbol
Name
ID
Mbnl1
muscleblind-like 1 (Drosophila)
MGI:1928482
Synonyms mKIAA0428
Feature Type protein coding gene
Genetic Map
Chromosome 3
29.17 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr3:60501252-60629748 bp, + strand
From Ensembl annotation of GRCm38

  128497 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23186  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Mbnl1

Human
homologs
Human Homolog MBNL1, muscleblind-like splicing regulator 1
NCBI Gene ID 4154
neXtProt AC  NX_Q9NR56
Human Synonyms  EXP, EXP35, EXP40, EXP42, MBNL
Human Chr (Location)  3q25; chr3:152244321-152465780 (+)  GRCh38
Alleles
and
phenotypes
All alleles(18) : Targeted(3) Gene trapped(15)
 
Mice homozygous for a targeted mutation that disrupts exon 3 exhibit myotonia, cataracts and RNA splicing defects.
 
Human Diseases Modeled Using Mouse Mbnl1 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process alternative mRNA splicing, via spliceosome, mRNA processing, ...
Component cytoplasm, cytoplasmic stress granule, ...
Function double-stranded RNA binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (191)    Tissues (118)    Images (28)
Theiler Stages: 2, 3, 4, 5, 6, 7, 9, 11, 13, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 88
Northern blot 38
Western blot 23
RT-PCR 42
cDNA source data(20)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(25) cDNA(21) Primer pair(4)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000027763 (Evidence)
Entrez Gene56758 (Evidence)
DFCITC1574313, TC1619330, TC1627635, TC1674891, TC1682744, TC1692087
DoTSDT.101277117, DT.101392748, DT.101392752, DT.101737830, DT.111040299, DT.494735, DT.94325441, DT.94348116, DT.94348127, DT.97354936, DT.99860402
NIA Mouse Gene IndexU042431
Consensus CDS ProjectCCDS17376.1
International Mouse Knockout Project StatusMbnl1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000027763 Ensembl Gene Model | MGI Sequence Detail 128497 C57BL/6J ±  kb
transcript ENSMUST00000099087 Ensembl | MGI Sequence Detail 5580 Not Applicable 
polypeptide ENSMUSP00000096686 Ensembl | MGI Sequence Detail 381 Not Applicable 

For the selected sequences
All sequences(119) RefSeq(68) UniProt(7)
Polymorphisms SNPs within 2kb(779 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000571 Zinc finger, CCCH-type
Protein Ontology PR:000010221 muscleblind-like protein 1
References (Earliest) J:114763 Miller JW, et al., Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 2000 Sep 1;19(17):4439-48
(Latest) J:200683 Gao Z, et al., Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13570-5
All references(60)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory